Details of Disease

Disease Name

Variegate porphyria

porphyria, South African type; variegate porphyria, homozygous variant; porphyria variegate; porphyria variegata, susceptibility to; VP; PPOX deficiency; porphyria variegata; variegate porphyria; protoporphyrinogen oxidase deficiency; Protocoproporphyria

Definition

Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

Disease Hierarchy

DISMI8EV: Hepatic porphyria

DISEPFG2: Inherited porphyria

DIS8OK5W: Variegate porphyria

Disease Identifiers

MONDO ID

MONDO_0008297

MESH ID

D046350

UMLS CUI

C0162532

OMIM ID

176200

MedGen ID

58118

Orphanet ID

79473

SNOMED CT ID

58275005

General Information of Disease (ID: DIS8OK5W)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALAS1	TTG1FXO	Strong	Biomarker	[1]
FECH	TTQ6VF4	Strong	Genetic Variation	[2]
HMBS	TTT0HW3	Definitive	Genetic Variation	[3]
PPOX	TTNFMS9	Definitive	Semidominant	[4]
PPOX	TTNFMS9	Definitive	Biomarker	[5]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
RDH5	DESI4OK	Strong	Biomarker	[6]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AQP2	OTQLBKK6	Strong	Altered Expression	[7]
CDC23	OTC4O83E	Strong	Altered Expression	[8]
CPOX	OTIAY121	Strong	Biomarker	[5]
HFE	OTDD93KB	Strong	Genetic Variation	[9]
KCNIP3	OTCQPEM4	Strong	Altered Expression	[10]
PPOX	OT75GZ3K	Definitive	Semidominant	[4]
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⏷ Show the Full List of 6 DOT(s)

References

1	A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.Scand J Clin Lab Invest. 2019 Sep;79(5):305-313. doi: 10.1080/00365513.2019.1622030. Epub 2019 Jun 1.
2	Molecular characterization of porphyrias in Italy: a diagnostic flow-chart.Cell Mol Biol (Noisy-le-grand). 2002 Dec;48(8):867-76.
3	Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.J Hepatol. 2015 Mar;62(3):734-8. doi: 10.1016/j.jhep.2014.11.029. Epub 2014 Nov 28.
4	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
5	Molecular analysis of 19 Spanish patients with mixed porphyrias.Eur J Med Genet. 2019 Dec;62(12):103589. doi: 10.1016/j.ejmg.2018.11.023. Epub 2018 Nov 23.
6	The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.Ann Intern Med. 2017 Jun 27;167(3):159-169. doi: 10.7326/M17-0188. Print 2017 Aug 1.
7	Inhibition of non-receptor tyrosine kinase Src induces phosphoserine 256-independent aquaporin-2 membrane accumulation.J Physiol. 2019 Mar;597(6):1627-1642. doi: 10.1113/JP277024. Epub 2018 Dec 21.
8	Differential gene expression induced by Verteporfin in endometrial cancer cells.Sci Rep. 2019 Mar 7;9(1):3839. doi: 10.1038/s41598-019-40495-9.
9	Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.Hum Mol Genet. 1999 Aug;8(8):1517-22. doi: 10.1093/hmg/8.8.1517.
10	Vasopressin regulates hypothalamic GnRH synthesis: Histomorphological evidence in hypothalamus and biological effects in GT1-7 cells.Life Sci. 2019 Jun 15;227:166-174. doi: 10.1016/j.lfs.2019.04.055. Epub 2019 Apr 23.